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AGGCGGCTCAGGTTGCGGAAGGCGG[A/C]GGCGGGCAGGGTGCGCAGCTGGGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610232 MIM: 173511 | ||||||||||||||||||||
Literature Links: |
ATP13A3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ATP13A3 - ATPase 13A3 | ||||||
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There are no transcripts associated with this gene. |
GP5 - glycoprotein V platelet | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004488.2 | 953 | Missense Mutation | GCC,TCC | A,S 308 | NP_004479.1 |